Canonical Allele Identifier: CA325540578

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1037339903
• gnomAD v4: 22-50582331-C-A
• MyVariant Identifiers: chr22:g.51020760C>A (hg19) ; chr22:g.50582331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582331C>A , CM000684.2:g.50582331C>A	GRCh38
NC_000022.10:g.51020760C>A , CM000684.1:g.51020760C>A	GRCh37
NC_000022.9:g.49367626C>A	NCBI36
NG_012643.1:g.1337G>T
NG_029213.1:g.5669G>T , LRG_855:g.5669G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.251G>T (CHKB) MANE Select	ENSP00000384400.3:p.Arg84Leu
ENST00000406938.2:c.251G>T (CHKB)	ENSP00000384400.2:p.Arg84Leu
ENST00000463053.1:n.333G>T (CHKB)
ENST00000465842.1:n.90G>T (CHKB)
ENST00000468532.5:n.128G>T (CHKB)
ENST00000476289.5:n.524G>T (CHKB)
ENST00000479003.5:n.490G>T (CHKB)
ENST00000481673.5:n.315G>T (CHKB)
ENST00000484266.5:n.494G>T (CHKB)
ENST00000492556.5:n.635G>T (CHKB-CPT1B)
ENST00000492582.5:n.524G>T (CHKB)
NM_005198.4:c.251G>T , LRG_855t1:c.251G>T (CHKB)	NP_005189.2:p.Arg84Leu
NR_027928.2:n.469G>T (CHKB-CPT1B)
NM_005198.5:c.251G>T (CHKB) MANE Select	NP_005189.2:p.Arg84Leu